Identification of three novel GNAO1 variants in a Chinese cohort with GNAO1 encephalopathy: expanding the clinical and genetic spectrum.

ABSTRACT:

Objective

To summarize the clinical characteristics of a cohort of nine Chinese children with GNAO1 encephalopathy and analyze their genotypes.

Methods

A retrospective study was conducted on nine children diagnosed with GNAO1 encephalopathy at the Neurology Department of two children's hospitals between January 2019 and December 2022. Their clinical manifestations, genetic test results, cranial imaging, electroencephalography and treatment were summarized. Their prognosis was followed up.

Results

All nine patients presented with moderate-to-severe psychomotor developmental delay and dystonia. Six patients exhibited neonatal or infantile-onset epilepsy, manifesting as generalized tonic-clonic seizure, myoclonic seizure, epileptic spasms, and were diagnosed with develop

SUBMITTER: Mei D 

PROVIDER: S-EPMC12363038 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature